Gene Gene information from NCBI Gene database.
Entrez ID 2113
Gene name ETS proto-oncogene 1, transcription factor
Gene symbol ETS1
Synonyms (NCBI Gene)
ETS-1EWSR2c-ets-1p54
Chromosome 11
Chromosome location 11q24.3
Summary This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transc
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1565372210 TCCTTG>AA Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
1043
miRTarBase ID miRNA Experiments Reference
MIRT000641 hsa-miR-9-5p Luciferase reporter assay 19956200
MIRT005104 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 18950466
MIRT005104 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 18950466
MIRT005104 hsa-miR-155-5p Microarray 19193853
MIRT004975 hsa-miR-31-5p Luciferase reporter assayqRT-PCR 19524507
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Transcription factor Regulation Reference
ETV4 Activation 8247540
ETV7 Unknown 22615925
JUN Activation 1945412
NR3C1 Repression 17016446
RARA Unknown 11327309
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 31146003
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 12119294
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 21711453
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164720 3488 ENSG00000134954
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14921
Protein name Protein C-ets-1 (p54)
Protein function Transcription factor (PubMed:10698492, PubMed:11909962). Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts (PubMed:20378371). May control the differentiation, survival and prolifera
PDB 1GVJ , 2NNY , 2STT , 2STW , 3MFK , 3RI4 , 3WTS , 3WTT , 3WTU , 3WTV , 3WTW , 3WTX , 3WTY , 3WTZ , 3WU0 , 3WU1 , 4L0Y , 4L0Z , 4L18 , 4LG0 , 5ZMC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02198 SAM_PNT 53 136 Sterile alpha motif (SAM)/Pointed domain Domain
PF00178 Ets 336 415 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed within lymphoid cells. Isoforms c-ETS-1A and Ets-1 p27 are both detected in all fetal tissues tested, but vary with tissue type in adult tissues. None is detected in brain or kidney. {ECO:0000269|PubMed:19377509, ECO:0
Sequence
MKAAVDLKPTLTIIKTEKVDLELFPSPDMECADVPLLTPSSKEMMSQALKATFSGFTKEQ
QRLGIPKDPRQWTETHVRDWVMWAVNEFSLKGVDFQKFCMNGAALCALGKDCFLELAPDF
VGDILWEHLEILQKED
VKPYQVNGVNPAYPESRYTSDYFISYGIEHAQCVPPSEFSEPSF
ITESYQTLHPISSEELLSLKYENDYPSVILRDPLQTDTLQNDYFAIKQEVVTPDNMCMGR
TSRGKLGGQDSFESIESYDSCDRLTQSWSSQSSFNSLQRVPSYDSFDSEDYPAALPNHKP
KGTFKDYVRDRADLNKDKPVIPAAALAGYTGSGPIQLWQFLLELLTDKSCQSFISWTGDG
WEFKLSDPDEVARRWGKRKNKPKMNYEKLSRGLRYYYDKNIIHKTAGKRYVYRFV
CDLQS
LLGYTPEELHAMLDVKPDADE
Sequence length 441
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ras signaling pathway
Cellular senescence
Human T-cell leukemia virus 1 infection
Pathways in cancer
Renal cell carcinoma
  Oncogene Induced Senescence
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
46
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
11q partial monosomy syndrome Pathogenic rs1565372210 RCV000770888
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ETS1-related disorder Likely pathogenic rs193272250 RCV001808883
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 30940846
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 2265401, 23522449, 3941901
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29512921
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 1967322, 3455787
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 3457468
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12377649, 15693893, 18772901, 9504693
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25880398
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 18772901
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11353051, 12949792, 21892521, 8952528, 9950164
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 11353051
★☆☆☆☆
Found in Text Mining only